V113I (p.Val113Ile) variant of SLC4A1 (Band 3 anion transport protein)
V113I (p.Val113Ile) in SLC4A1 (Band 3 anion transport protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.17 / 1. The record also includes population frequency data and structural context.
V113I (p.Val113Ile) variant details
- p.Val113Ile
- rs142757938
- ClinGen CA8600637
- ClinVar RCV000883456
- 1000Genomes rs142757938
- Conflicting interpretations
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.166
- REVEL 0.07
- CADD 10.40
- PolyPhen-2 0.01
- SIFT 0.06
- ClinVar: Conflicting classifications of pathogenicity (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the 1KG:GWD population (allele frequency 0.013)
- Structural context available